Variant report

Variant	rs72935238
Chromosome Location	chr18:9138119-9138120
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MXI1	chr18:9135500-9138250	IMR90	lung:	n/a	n/a
2	CREB1	chr18:9137306-9138134	GM12878	blood:	n/a	n/a
3	BCLAF1	chr18:9137310-9138220	GM12878	blood:	n/a	chr18:9137453-9137466
4	NRF1	chr18:9136182-9138169	SK-N-SH	brain:	n/a	n/a
5	POLR2A	chr18:9135687-9138123	GM12878	blood:	n/a	n/a
6	MAZ	chr18:9135473-9138318	IMR90	lung:	n/a	chr18:9136179-9136189
7	PML	chr18:9137305-9138243	GM12878	blood:	n/a	n/a
8	POLR2A	chr18:9135723-9138141	ProgFib	skin:	n/a	n/a
9	SIN3AK20	chr18:9135694-9138194	MCF-7	breast:	n/a	n/a
10	POLR2A	chr18:9135684-9138135	GM12878	blood:	n/a	n/a
11	REST	chr18:9135621-9138238	H1-neurons	neurons:	n/a	chr18:9135897-9135904 chr18:9136789-9136802 chr18:9135645-9135653 chr18:9136786-9136793 chr18:9136664-9136677 chr18:9136450-9136463
12	POLR2A	chr18:9137298-9138352	GM12878	blood:	n/a	n/a
13	POLR2A	chr18:9137504-9138189	GM12891	blood:	n/a	n/a
14	POLR2A	chr18:9137501-9138281	GM12892	blood:	n/a	n/a
15	MTA3	chr18:9137470-9138275	GM12878	blood:	n/a	n/a
16	MYC	chr18:9138015-9138215	MCF10A-Er-Src	breast:	n/a	n/a
17	POLR2A	chr18:9137310-9138233	GM12891	blood:	n/a	n/a
18	POLR2A	chr18:9135719-9138119	GM12878	blood:	n/a	n/a
19	POLR2A	chr18:9137521-9138225	GM12892	blood:	n/a	n/a
20	POLR2A	chr18:9135135-9138194	GM12878	blood:	n/a	n/a
21	POLR2A	chr18:9134266-9138689	GM12891	blood:	n/a	n/a
22	POLR2A	chr18:9135706-9138132	H1-neurons	neurons:	n/a	n/a
23	HEY1	chr18:9137286-9138122	K562	blood:	n/a	chr18:9137371-9137386
24	RELA	chr18:9135702-9138135	GM12891	blood:	n/a	n/a
25	CHD1	chr18:9135676-9140919	GM12878	blood:	n/a	n/a
26	MXI1	chr18:9135143-9138796	SK-N-SH	brain:	n/a	n/a
27	POLR2A	chr18:9135630-9138224	HepG2	liver:	n/a	n/a
28	TBP	chr18:9135724-9138173	K562	blood:	n/a	n/a
29	POLR2A	chr18:9135657-9138123	GM19099	blood:	n/a	n/a
30	POLR2A	chr18:9135574-9138129	HUVEC	blood vessel:	n/a	n/a
31	POLR2A	chr18:9134925-9138506	GM12892	blood:	n/a	n/a
32	CHD1	chr18:9135424-9139416	IMR90	lung:	n/a	n/a
33	POLR2A	chr18:9135118-9138291	GM12892	blood:	n/a	n/a
34	SIN3AK20	chr18:9135623-9138166	K562	blood:	n/a	n/a
35	POLR2A	chr18:9137287-9138600	GM12891	blood:	n/a	n/a
36	BCLAF1	chr18:9137319-9138210	GM12878	blood:	n/a	chr18:9137453-9137466
37	ZNF263	chr18:9137526-9138120	HEK293-T-REx	kidney:	n/a	n/a
38	POLR2A	chr18:9135529-9138844	GM12878	blood:	n/a	n/a
39	GTF3C2	chr18:9136094-9138739	K562	blood:	n/a	n/a
40	GTF3C2	chr18:9137854-9138735	Hela-S3	cervix:	n/a	n/a
41	BHLHE40	chr18:9135643-9138175	GM12878	blood:	n/a	chr18:9137523-9137539 chr18:9137515-9137531 chr18:9136608-9136624 chr18:9137555-9137571
42	POLR2A	chr18:9135657-9139270	IMR90	lung:	n/a	n/a
43	SIN3AK20	chr18:9137301-9138120	SK-N-SH	brain:	n/a	n/a
44	POLR2A	chr18:9135176-9138510	GM18505	blood:	n/a	n/a
45	RUNX3	chr18:9137312-9138202	GM12878	blood:	n/a	n/a
46	MYC	chr18:9135759-9138134	K562	blood:	n/a	chr18:9136179-9136189
47	CREB1	chr18:9137504-9138155	H1-hESC	embryonic stem cell:	n/a	n/a
48	SMARCB1	chr18:9135894-9138139	Hela-S3	cervix:	n/a	n/a
49	JUND	chr18:9135409-9138232	SK-N-SH	brain:	n/a	chr18:9135522-9135534 chr18:9136184-9136193
50	POLR2A	chr18:9137297-9138648	GM12891	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr18:9137564..9140546-chr18:9188464..9190895,2	MCF-7	breast:
2	chr18:9135476..9138567-chr18:9475319..9477627,4	K562	blood:
3	chr18:9100897..9104416-chr18:9134561..9139326,10	MCF-7	breast:
4	chr18:9100057..9106592-chr18:9133189..9143801,32	K562	blood:
5	chr18:9116916..9118754-chr18:9136071..9139010,3	K562	blood:
6	chr18:8704166..8706937-chr18:9136436..9139051,3	MCF-7	breast:
7	chr18:9137627..9140441-chr18:9161165..9162837,2	K562	blood:
8	chr18:9099316..9108402-chr18:9132066..9139576,22	K562	blood:
9	chr18:9113884..9116180-chr18:9136154..9138641,4	K562	blood:
10	chr18:9100237..9107287-chr18:9132588..9139279,23	MCF-7	breast:
11	chr18:9137078..9139236-chr18:9332503..9334760,2	K562	blood:
12	chr18:9136777..9139021-chr18:9215479..9217327,2	K562	blood:

Variant related genes	Relation type
ENSG00000266053	TF binding region
ENSG00000263847	Chromatin interaction
ENSG00000168502	Chromatin interaction
ENSG00000101745	Chromatin interaction
ENSG00000265257	Chromatin interaction
ENSG00000264964	Chromatin interaction
ENSG00000178127	Chromatin interaction
ENSG00000017797	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs72935228	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72935234	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72939247	0.80[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916373	chr18:9026803-9592201	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
2	nsv431971	chr18:9081185-9326852	Flanking Active TSS Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv1056258	chr18:9094498-9181498	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
4	nsv909364	chr18:9114096-9186684	Flanking Active TSS Enhancers Strong transcription Genic enhancers Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
5	nsv543641	chr18:9120450-9181498	Genic enhancers Flanking Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
6	nsv543642	chr18:9133164-9191739	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
7	esv3396257	chr18:9135852-9138500	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Bivalent/Poised TSS ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:9135000-9139200	Active TSS	Pancreatic Islets	Pancreatic Islet
2	chr18:9135200-9138200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr18:9135200-9138200	Active TSS	Spleen	Spleen
4	chr18:9135200-9138400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
5	chr18:9135200-9138400	Active TSS	HUES48 Cell Line	embryonic stem cell
6	chr18:9135400-9138200	Active TSS	HUES64 Cell Line	embryonic stem cell
7	chr18:9135400-9139000	Active TSS	HUES6 Cell Line	embryonic stem cell
8	chr18:9135400-9140200	Active TSS	Psoas Muscle	Psoas
9	chr18:9135600-9138200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr18:9135600-9138400	Active TSS	Esophagus	oesophagus
11	chr18:9135600-9138800	Active TSS	ES-I3 Cell Line	embryonic stem cell
12	chr18:9135600-9139000	Active TSS	A549	lung
13	chr18:9135600-9140000	Active TSS	Right Ventricle	heart
14	chr18:9135600-9140200	Active TSS	NHDF-Ad	bronchial
15	chr18:9135800-9138200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr18:9135800-9138200	Active TSS	Placenta Amnion	Placenta Amnion
17	chr18:9135800-9138400	Active TSS	Primary T killer memory cells from peripheral blood	blood
18	chr18:9135800-9138400	Active TSS	Fetal Intestine Large	intestine
19	chr18:9135800-9138400	Active TSS	Left Ventricle	heart
20	chr18:9135800-9138600	Active TSS	iPS-15b Cell Line	embryonic stem cell
21	chr18:9135800-9138600	Active TSS	Fetal Intestine Small	intestine
22	chr18:9135800-9138600	Active TSS	Lung	lung
23	chr18:9135800-9138600	Active TSS	Pancreas	Pancrea
24	chr18:9135800-9138600	Active TSS	Small Intestine	intestine
25	chr18:9135800-9138800	Active TSS	Ovary	ovary
26	chr18:9135800-9138800	Active TSS	Hela-S3	cervix
27	chr18:9135800-9139000	Active TSS	Colonic Mucosa	Colon
28	chr18:9135800-9140000	Active TSS	Aorta	Aorta
29	chr18:9135800-9140800	Active TSS	GM12878-XiMat	blood
30	chr18:9136000-9138200	Active TSS	Liver	Liver
31	chr18:9136000-9138200	Active TSS	Brain Hippocampus Middle	brain
32	chr18:9136000-9138200	Active TSS	Stomach Mucosa	stomach
33	chr18:9136000-9138400	Active TSS	iPS-18 Cell Line	embryonic stem cell
34	chr18:9136000-9138400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr18:9136000-9138400	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
36	chr18:9136000-9138400	Active TSS	Brain Anterior Caudate	brain
37	chr18:9136000-9138400	Active TSS	Brain Cingulate Gyrus	brain
38	chr18:9136000-9138400	Active TSS	Brain Substantia Nigra	brain
39	chr18:9136000-9138400	Active TSS	Duodenum Smooth Muscle	Duodenum
40	chr18:9136000-9138600	Active TSS	Gastric	stomach
41	chr18:9136000-9138600	Active TSS	Rectal Smooth Muscle	rectum
42	chr18:9136000-9138800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
43	chr18:9136000-9138800	Active TSS	Sigmoid Colon	Sigmoid Colon
44	chr18:9136000-9139000	Active TSS	Brain Angular Gyrus	brain
45	chr18:9136000-9139200	Active TSS	Brain Inferior Temporal Lobe	brain
46	chr18:9136000-9139200	Active TSS	HSMMtube	muscle
47	chr18:9136000-9139600	Active TSS	K562	blood
48	chr18:9136000-9140000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr18:9136000-9140800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr18:9136000-9140800	Active TSS	Breast Myoepithelial Primary Cells	Breast

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